Canonical Allele Identifier: CA1355987530

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021623_33021625delinsCAG , CM000665.2:g.33021623_33021625delinsCAG	GRCh38
NC_000003.11:g.33063115_33063117delinsCAG , CM000665.1:g.33063115_33063117delinsCAG	GRCh37
NC_000003.10:g.33038119_33038121delinsCAG	NCBI36
NG_009005.1:g.80578_80580delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1174_1176delinsCTG MANE Select	ENSP00000306920.4:p.Leu392=
ENST00000307363.9:c.1174_1176delinsCTG	ENSP00000306920.4:p.Leu392=
ENST00000307377.12:c.781_783delinsCTG	ENSP00000305920.8:p.Leu261=
ENST00000399402.7:c.1084_1086delinsCTG	ENSP00000382333.2:p.Leu362=
ENST00000461475.5:n.273_275delinsCTG
ENST00000467571.5:n.211_213delinsCTG
ENST00000473477.1:n.206_208delinsCTG
ENST00000497796.5:n.426_428delinsCTG
NM_000404.2:c.1174_1176delinsCTG	NP_000395.2:p.Leu392=
NM_000404.3:c.1174_1176delinsCTG	NP_000395.2:p.Leu392=
NM_001079811.1:c.1084_1086delinsCTG	NP_001073279.1:p.Leu362=
NM_001079811.2:c.1084_1086delinsCTG	NP_001073279.1:p.Leu362=
NM_001135602.1:c.781_783delinsCTG	NP_001129074.1:p.Leu261=
NM_001135602.2:c.781_783delinsCTG	NP_001129074.1:p.Leu261=
NM_001317040.1:c.1318_1320delinsCTG	NP_001303969.1:p.Leu440=
XR_001740634.1:n.1543-565_1543-563delinsCAG
NM_000404.4:c.1174_1176delinsCTG MANE Select	NP_000395.3:p.Leu392=
NM_001079811.3:c.1084_1086delinsCTG	NP_001073279.2:p.Leu362=
NM_001135602.3:c.781_783delinsCTG	NP_001129074.2:p.Leu261=
NM_001317040.2:c.1318_1320delinsCTG	NP_001303969.2:p.Leu440=
NM_001393580.1:c.1174_1176delinsCTG	NP_001380509.1:p.Leu392=